What is a compound heterozygote?
Two alleles that are heterozygous, but both gene products mimic the wild type allele
Heterogeneous recessive alleles at a particular locus that can cause genetic disease in a heterozygous state
Where one recessive allele causes the mutation of another
Autosomal recessive disorders are far more common between consaginous individuals
Heterozygotes with autosomal recessive alleles tend to manifest _ strongly than homozygotes
Which of the following relationships describes A & D
First cousins once removed
Second cousins once removed
What is the relationship between A & B
Name the two factors that lead to Amish Microcelepathy in the Amish population
By English law, how is incest defined?
Sibling- Half sibling
What type of relationships would the children of the above parents have?
Double first cousins
Double second cousins
Autosomal dominant mutations have a sex bias
What type of disease is being passed on in this pedigree?
Autosomal dominant phenotypes often require environmental factors
Which of the sex chromosomes can carry a disorder?
Which type of inheritance is shown by the pedigree pictured?
Chromosome defects most often effect fertility
Why would a Y-linked disorder effect fertility?
Y chromosome genes most often effect sex organs
The Y chromosome damages genes for hormones more easily than any other gene
Diseased sons with a y-linked disorder must have diseased mothers
Which of the following is true of an X-linked recessive disorder?
No direct male to male transmission
The mother is usually the carrier
The father is usually the carrier
Effects mainly males
Effects mainly females
Males cannot be born to unaffected parents
A father will an X-linked recessive disease will mean that ALL his daughters are carriers
The following pedigree shows which type of inheritence?
Only females will be effected by an X-linked dominant allele
A father with an X-linked dominant will infect all his daughters
Of females and males, who are effected more mildly/variably by x-linked dominant disorders?
Both are effected equally
Which of the following is true about Rhett syndrome?
It is most likely to occur in the young
It is most likely to occur as you age
Caused by an MeCP2 fault
Caused by haploinsufficiency
Caused by Pseudodominance
Caused by faulty gene expression
Why is Genomic Imprinting a thing?
Some genes are selectively expressed from the maternal or paternal allele
Some genes are more dominant depending which parent it is expressed from
Maternal genes are more likely to cause disorders than paternal genes
Disorders due to genomic imprinting are caused when differential expression is lost
Amish microcephaly is an example of what?
X linked dominant
X linked recessive
Hemimegalencephaly is an example of what?
Non-obstructive spermatogenic failure is an X-linked recessive disease
Colour blindness is an example of...
State some symptoms of CLUB4-mutated X-linked syndrome